Canonical Allele Identifier: CA2639261624
Gene: ACE HGNC NCBI

Linked Data

gnomAD v4: 17-63483774-T-TGGATGGTGCCTGGGTAAGGAACCC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63483775_63483798dup , CM000679.2:g.63483775_63483798dup GRCh38
NC_000017.10:g.61561136_61561159dup , CM000679.1:g.61561136_61561159dup GRCh37
NC_000017.9:g.58914868_58914891dup NCBI36
NG_011648.1:g.11703_11726dup

Transcript Alleles

HGVS Amino-acid change
ENST00000290866.10:c.1587-74_1587-51dup MANE Select ENSP00000290866.4:n.1587-74_1587-51dup
ENST00000290866.9:c.1587-74_1587-51dup ENSP00000290866.4:n.1587-74_1587-51dup
ENST00000428043.5:c.1587-74_1587-51dup ENSP00000397593.2:n.1587-74_1587-51dup
ENST00000582678.5:c.*986-74_*986-51dup ENSP00000462995.1:n.*986-74_*986-51dup
NM_000789.3:c.1587-74_1587-51dup NP_000780.1:n.1587-74_1587-51dup
XM_005257110.1:c.1038-74_1038-51dup XP_005257167.1:n.1038-74_1038-51dup
NM_000789.4:c.1587-74_1587-51dup MANE Select NP_000780.1:n.1587-74_1587-51dup
NM_001382700.1:c.1020-74_1020-51dup NP_001369629.1:n.1020-74_1020-51dup
NM_001382701.1:c.735-74_735-51dup NP_001369630.1:n.735-74_735-51dup
Search 100 bp 5'
Search 100 bp 3'